Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs79184941
FGFR2
0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 41
rs77543610
FGFR2
0.667 0.560 10 121520160 missense variant G/C snv 28
rs180177135
PALB2
0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05 27
rs1562127631
IRAK1BP1 ; PHIP
0.742 0.360 6 78961751 frameshift variant C/- del 24
rs137854466
FBN1
0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06 23
rs1562150844
PHIP
0.790 0.280 6 78982908 frameshift variant CTTT/- delins 14
rs1164484724
MAN1B1
0.790 0.240 9 137108433 stop gained C/T snv 7.0E-06 13
rs775769424
BBS1 ; ZDHHC24
0.776 0.280 11 66530934 frameshift variant TG/- del 1.4E-05 11
rs1563595095
CHD7
0.776 0.320 8 60781285 frameshift variant AA/T delins 10
rs121918504
FGFR2
0.807 0.120 10 121517460 missense variant C/A;T snv 2.4E-05 9
rs886039792
TXNDC15
0.807 0.280 5 134874531 splice donor variant G/A snv 9
rs886039813
OFD1
0.827 0.160 X 13756600 frameshift variant C/- delins 8
rs786205745
CACNA1C
0.807 0.320 12 2504538 missense variant G/A;C snv 6
rs79891110
CACNA1C
0.807 0.320 12 2504944 stop gained G/A;T snv 6
rs200750564
HOXD13
0.827 0.160 2 176094518 stop gained C/T snv 8.0E-06 7.0E-06 6
rs1553370918
MYCN
0.851 0.360 2 15945602 frameshift variant TG/- delins 6
rs764670582
GJA1
0.827 0.120 6 121447563 missense variant G/A snv 2.4E-05 4.2E-05 5
rs387906836
TULP1
0.851 0.080 6 35503763 missense variant G/A snv 5
rs398123278
MMUT
0.925 0.120 6 49459376 stop gained G/A snv 1.6E-05 2.8E-05 4
rs756016701
FGFR1
0.882 0.080 8 38419718 missense variant C/A snv 4.0E-06 3
rs981703846
FGFR1
0.882 0.080 8 38421872 missense variant C/A;T snv 8.0E-06 3
rs104894612
NOG
0.882 0.080 17 56594774 missense variant G/A snv 3
rs766812325
RUNX2
0.882 0.080 6 45492058 missense variant C/G snv 3
rs1458741036
FGFR2
0.925 0.080 10 121515287 missense variant G/A snv 3.5E-05 2
rs104893966
GJA1
0.925 0.160 6 121447428 missense variant A/C snv 2